The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population

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<title>Abstract</title> <p>Hereditarybreast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of <italic>BRCA1</italic> or <italic>BRCA2</italic> is the most common and well-documented hereditary tumor. Although founder mutations have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Megabank Organization (ToMMo) released whole-genome sequence data including approximately 54,000 individuals from the general population of theTohoku area in Japan. We analyzed these data and comprehensively identified the prevalence of <italic>BRCA1/2</italic> pathogenic and truncating variants<italic>. </italic>Interestingly, our analysis showed that most of the top <italic>BRCA1/2</italic>pathogenic variants believed to be founder mutations do not match reports from other countries. We believe that an accurate understanding of the unique distribution and characteristics of pathogenic <italic>BRCA1/2</italic>variants in Japan through this analysis will enable better surveillance and intervention for HBOC patients, not only in Japan but also worldwide.</p>

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